Metabolic mimics

The disorders of N-linked glycosylation

Marc C. Patterson

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

N-linked glycosylation is essential for normal cellular function. Defects have now been described in eighteen genes that participate in the process. All give rise to complex multisystem diseases which, with a few exceptions, primarily involve the nervous system. Frequent features of these disorders include developmental delay, ataxia, seizures, stroke-like episodes, recurrent infections, coagulopathy and dysmorphism. Most cases can be detected by screening carbohydrate-deficient transferrin, but definitive diagnosis requires enzymatic and molecular confirmation, frequently in collaboration with a research glycobiologist.

Original languageEnglish (US)
Pages (from-to)144-151
Number of pages8
JournalSeminars in Pediatric Neurology
Volume12
Issue number3
DOIs
StatePublished - Sep 2005
Externally publishedYes

Fingerprint

Developmental Disabilities
Ataxia
Glycosylation
Nervous System
Seizures
Stroke
Infection
Research
Genes
carbohydrate-deficient transferrin

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Metabolic mimics : The disorders of N-linked glycosylation. / Patterson, Marc C.

In: Seminars in Pediatric Neurology, Vol. 12, No. 3, 09.2005, p. 144-151.

Research output: Contribution to journalArticle

Patterson, Marc C. / Metabolic mimics : The disorders of N-linked glycosylation. In: Seminars in Pediatric Neurology. 2005 ; Vol. 12, No. 3. pp. 144-151.
@article{76cb0c04809d45c7b9c81e15bb5266a1,
title = "Metabolic mimics: The disorders of N-linked glycosylation",
abstract = "N-linked glycosylation is essential for normal cellular function. Defects have now been described in eighteen genes that participate in the process. All give rise to complex multisystem diseases which, with a few exceptions, primarily involve the nervous system. Frequent features of these disorders include developmental delay, ataxia, seizures, stroke-like episodes, recurrent infections, coagulopathy and dysmorphism. Most cases can be detected by screening carbohydrate-deficient transferrin, but definitive diagnosis requires enzymatic and molecular confirmation, frequently in collaboration with a research glycobiologist.",
author = "Patterson, {Marc C.}",
year = "2005",
month = "9",
doi = "10.1016/j.spen.2005.10.002",
language = "English (US)",
volume = "12",
pages = "144--151",
journal = "Seminars in Pediatric Neurology",
issn = "1071-9091",
publisher = "W.B. Saunders Ltd",
number = "3",

}

TY - JOUR

T1 - Metabolic mimics

T2 - The disorders of N-linked glycosylation

AU - Patterson, Marc C.

PY - 2005/9

Y1 - 2005/9

N2 - N-linked glycosylation is essential for normal cellular function. Defects have now been described in eighteen genes that participate in the process. All give rise to complex multisystem diseases which, with a few exceptions, primarily involve the nervous system. Frequent features of these disorders include developmental delay, ataxia, seizures, stroke-like episodes, recurrent infections, coagulopathy and dysmorphism. Most cases can be detected by screening carbohydrate-deficient transferrin, but definitive diagnosis requires enzymatic and molecular confirmation, frequently in collaboration with a research glycobiologist.

AB - N-linked glycosylation is essential for normal cellular function. Defects have now been described in eighteen genes that participate in the process. All give rise to complex multisystem diseases which, with a few exceptions, primarily involve the nervous system. Frequent features of these disorders include developmental delay, ataxia, seizures, stroke-like episodes, recurrent infections, coagulopathy and dysmorphism. Most cases can be detected by screening carbohydrate-deficient transferrin, but definitive diagnosis requires enzymatic and molecular confirmation, frequently in collaboration with a research glycobiologist.

UR - http://www.scopus.com/inward/record.url?scp=33644759171&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=33644759171&partnerID=8YFLogxK

U2 - 10.1016/j.spen.2005.10.002

DO - 10.1016/j.spen.2005.10.002

M3 - Article

VL - 12

SP - 144

EP - 151

JO - Seminars in Pediatric Neurology

JF - Seminars in Pediatric Neurology

SN - 1071-9091

IS - 3

ER -